Blood, Vol. 95 No. 4 (February 15), 2000:
pp. 1499-1501
BRIEF REPORT
Glucose-6-phosphate dehydrogenase Aveiro: a de novo mutation
associated with chronic nonspherocytic hemolytic
anemia
Elísio Costa,
José Manuel Cabeda,
Emilia Vieira,
Rui Pinto,
Susana Aires Pereira,
Leonor Ferraz,
Rosário Santos, and
José Barbot
From the Serviço de Hematologia Clínica, Hospital de
Crianças Maria Pia, Porto; the Serviço de Hematologia
Clínica, Hospital Geral de Santo António, Porto; the
Unidade de Genética Molecular do Instituto de Genética
Médica Doutor Jacinto de Magalhães, Porto; the Departamento
Materno-Infantil, Centro Hospitalar de Vila Nova de Gaia, Vila Nova de
Gaia, Portugal.
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common
X-linked enzyme abnormality. The clinical phenotype is variable but
often predictable from the molecular lesion. Class I variants (the most severe forms of the disease) cluster within exon
10, in a region that, at the protein level, is believed to be
involved in dimerization. Here we describe a de novo
mutation (C269Y) of a new class I variant (G6PD Aveiro) that maps
to exon 8. Mutant and normal alleles were found in both
hematopoietic and buccal cells, indicating the presence of mosaicism.
The available model of the protein predicts that this lesion lies in
proximity to the dimer interface of the molecule. A possible
mechanism to explain the severity of the defect is proposed.
